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CC BY-NC-ND 4.0 · International Journal of Epilepsy 2014; 01(02): 092-093
DOI: 10.1016/j.ijep.2014.05.005
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A child with global neuroregression with refractory epilepsy

Rachana Dubey
a   Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
,
Biswaroop Chakrabarty
a   Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
,
Sheffali Gulati
a   Division of Pediatric Neurology, Department of Pediatrics, All India Institute of Medical Sciences, New Delhi 110 029, India
,
Atin Kumar
b   Department of Radio-Diagnosis, JPNA Trauma Centre, All India Institute of Medical Sciences, New Delhi, India
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Publikationsverlauf

Received: 09. Februar 2014

Accepted: 28. Mai 2014

Publikationsdatum:
04. Mai 2018 (online)

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Abstract

Hypomyelinating disorders have wide spectrum of clinical and radiological manifestations. A 17-month-old girl presented with baseline global developmental delay with insidious onset global neuroregression with refractory seizures from 1 year of age. Her birth and family history were noncontributory. Salient features on examination were central hypotonia and retinal cherry red spot. MRI Brain revealed characteristic white matter and basal ganglia changes. Her serum hexosaminidase A levels were undetectable. Identification of these radiological changes is crucial in directing appropriate enzyme and mutation testing in these patients.

Keywords

Hypomyelination - Neuroregression - Retinal cherry red spot - Hexosaminidase A
 

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